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Ataxia with vitamin E deficiency(VED)

MedGen UID:
341248
Concept ID:
C1848533
Disease or Syndrome
Synonyms: Ataxia with isolated vitamin E deficiency; Familial isolated deficiency of vitamin E; Friedreich-like ataxia with selective vitamin E deficiency; VED
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
SNOMED CT: Familial isolated vitamin E deficiency (702442008); Friedreich-like ataxia (702442008); Ataxia with vitamin E deficiency (702442008); Ataxia with isolated vitamin E deficiency (702442008); Friedreich ataxia phenotype with selective vitamin E deficiency (702442008)
 
Gene (location): TTPA (8q12.3)
OMIM®: 277460
Orphanet: ORPHA96

Definition

Most individuals with ataxia with vitamin E deficiency (AVED) present at puberty; common characteristics of the disease include progressive ataxia, clumsiness of the hands, loss of proprioception (especially of vibration and joint position sense), and areflexia. Other features often observed are dysdiadochokinesia, positive Romberg sign, head titubation, decreased visual acuity, and positive Babinski sign. The phenotype and disease severity vary widely among families with different mutations; age of onset and disease course are more uniform within a given family, but symptoms and disease severity can vary even among sibs. [from GeneReviews]

Additional description

From GHR
Ataxia with vitamin E deficiency is a disorder that impairs the body's ability to use vitamin E. Vitamin E is an antioxidant that protects cells in the body from the damaging effects of unstable molecules called free radicals. Lack of vitamin E causes neurological problems, such as difficulty coordinating movements (ataxia) and speech (dysarthria), loss of reflexes in the legs (lower limb areflexia), and a loss of sensation in the extremities (peripheral neuropathy). A few people with this condition have developed an eye disorder called retinitis pigmentosa that causes vision loss. Most people who have ataxia with vitamin E deficiency start to experience problems with movement between the age of 4 years and 18 years. The movement problems tend to worsen with age.  http://ghr.nlm.nih.gov/condition/ataxia-with-vitamin-e-deficiency

Clinical features

Xanthelasma
MedGen UID:
504731
Concept ID:
CN001046
Finding
The presence of xanthomata in the skin of the eyelid.
Visual impairment
MedGen UID:
22663
Concept ID:
C0042798
Finding
Vision considered to be inferior to normal vision as represented by accepted standards of acuity, field of vision, or motility. Low vision generally refers to visual disorders that are caused by diseases that cannot be corrected by refraction (e.g., MACULAR DEGENERATION; RETINITIS PIGMENTOSA; DIABETIC RETINOPATHY, etc.).
Abnormality of vision evoked potentials
MedGen UID:
105509
Concept ID:
C0522214
Finding
Abnormal retinal pigmentation
MedGen UID:
350681
Concept ID:
C1862475
Finding
Nystagmus
MedGen UID:
409575
Concept ID:
C1963184
Finding
Night blindness
MedGen UID:
504543
Concept ID:
CN000623
Finding
Inability to see well at night or in poor light.
Areflexia
MedGen UID:
115943
Concept ID:
C0234146
Finding
Hypertonia
MedGen UID:
115988
Concept ID:
C0235396
Finding
Gait disturbance
MedGen UID:
107895
Concept ID:
C0575081
Sign or Symptom
A finding referring to walking difficulties.
Developmental regression
MedGen UID:
324613
Concept ID:
C1836830
Disease or Syndrome
Incoordination
MedGen UID:
351047
Concept ID:
C1864113
Finding
Tremor
MedGen UID:
776582
Concept ID:
C2364114
Finding
Ataxia
MedGen UID:
504767
Concept ID:
CN001146
Finding
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- oder overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Neurological speech impairment
MedGen UID:
446437
Concept ID:
CN001964
Finding
Hemiplegia/hemiparesis
MedGen UID:
446595
Concept ID:
CN003873
Finding
Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength.
Abnormal pyramidal signs
MedGen UID:
506043
Concept ID:
CN006345
Finding
Functional neurological abnormalities related to dysfunction of the pyramidal tract.
Peripheral neuropathy
MedGen UID:
506330
Concept ID:
CN008687
Finding
Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.
Diabetes mellitus
MedGen UID:
504609
Concept ID:
CN000766
Finding
A group of abnormalities characterized by hyperglycemia and glucose intolerance.
Scoliosis
MedGen UID:
427922
Concept ID:
CN002409
Finding
The presence of an abnormal lateral curvature of the spine.
Tendon xanthomatosis
MedGen UID:
506410
Concept ID:
CN116608
Finding
The presence of xanthomas (intra-and extra-cellular accumulations of cholesterol) extensor tendons (typically over knuckles, Achilles tendon, knee, and elbows).
Xanthelasma
MedGen UID:
504731
Concept ID:
CN001046
Finding
The presence of xanthomata in the skin of the eyelid.
Tendon xanthomatosis
MedGen UID:
506410
Concept ID:
CN116608
Finding
The presence of xanthomas (intra-and extra-cellular accumulations of cholesterol) extensor tendons (typically over knuckles, Achilles tendon, knee, and elbows).
Cardiac arrhythmia
MedGen UID:
2039
Concept ID:
C0003811
Pathologic Function
An arrhythmia is a problem with the rate or rhythm of your heartbeat. It means that your heart beats too quickly, too slowly, or with an irregular pattern. When the heart beats faster than normal, it is called tachycardia. When the heart beats too slowly, it is called bradycardia. The most common type of arrhythmia is atrial fibrillation, which causes an irregular and fast heart beat. Many factors can affect your heart's rhythm, such as having had a heart attack, smoking, congenital heart defects, and stress. Some substances or medicines may also cause arrhythmias. . Symptoms of arrhythmias include: -Fast or slow heart beat. -Skipping beats. -Lightheadedness or dizziness. -Chest pain. -Shortness of breath . -Sweating . Your doctor can run tests to find out if you have an arrhythmia. Treatment to restore a normal heart rhythm may include medicines, an implantable cardioverter-defibrillator (ICD) or pacemaker, or sometimes surgery. . NIH: National Heart, Lung, and Blood Institute.
Hypertrophic cardiomyopathy
MedGen UID:
504884
Concept ID:
CN001492
Finding
Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.
Hypertriglyceridemia
MedGen UID:
43788
Concept ID:
C0020557
Finding
A condition of elevated levels of TRIGLYCERIDES in the blood.
Hyperbetalipoproteinemia
MedGen UID:
154289
Concept ID:
C0549399
Finding
Hypercholesterolemia
MedGen UID:
312004
Concept ID:
C1522133
Laboratory or Test Result
A laboratory test result indicating an increased amount of cholesterol in the blood.
Diabetes mellitus
MedGen UID:
504609
Concept ID:
CN000766
Finding
A group of abnormalities characterized by hyperglycemia and glucose intolerance.
Vitamin E deficiency
MedGen UID:
775755
Concept ID:
CN117406
Finding
Muscle weakness
MedGen UID:
57735
Concept ID:
C0151786
Finding
A vague complaint of debility, fatigue, or exhaustion attributable to weakness of various muscles. The weakness can be characterized as subacute or chronic, often progressive, and is a manifestation of many muscle and neuromuscular diseases. (From Wyngaarden et al., Cecil Textbook of Medicine, 19th ed, p2251)
Hypertonia
MedGen UID:
115988
Concept ID:
C0235396
Finding
Skeletal muscle atrophy
MedGen UID:
505481
Concept ID:
CN002890
Finding
The presence of skeletal muscular atrophy (which is also known as amyotrophy).
Pes cavus
MedGen UID:
425071
Concept ID:
CN001601
Finding
The presence of an unusually high plantar arch. Also called high instep, pes cavus refers to a distinctly hollow form of the sole of the foot when it is bearing weight.

Professional guidelines

PubMed

van de Warrenburg BP, van Gaalen J, Boesch S, Burgunder JM, Dürr A, Giunti P, Klockgether T, Mariotti C, Pandolfo M, Riess O
Eur J Neurol 2014 Apr;21(4):552-62. Epub 2014 Jan 13 doi: 10.1111/ene.12341. [Epub ahead of print] PMID: 24418350
Gasser T, Finsterer J, Baets J, Van Broeckhoven C, Di Donato S, Fontaine B, De Jonghe P, Lossos A, Lynch T, Mariotti C, Schöls L, Spinazzola A, Szolnoki Z, Tabrizi SJ, Tallaksen CM, Zeviani M, Burgunder JM, Harbo HF; EFNS
Eur J Neurol 2010 Feb;17(2):179-88. Epub 2009 Dec 28 doi: 10.1111/j.1468-1331.2009.02873.x. [Epub ahead of print] PMID: 20050888

Recent clinical studies

Etiology

El Euch-Fayache G, Bouhlal Y, Amouri R, Feki M, Hentati F
Brain 2014 Feb;137(Pt 2):402-10. Epub 2013 Dec 25 doi: 10.1093/brain/awt339. [Epub ahead of print] PMID: 24369383
Jayadev S, Bird TD
Genet Med 2013 Sep;15(9):673-83. Epub 2013 Mar 28 doi: 10.1038/gim.2013.28. [Epub ahead of print] PMID: 23538602
Anheim M, Fleury M, Monga B, Laugel V, Chaigne D, Rodier G, Ginglinger E, Boulay C, Courtois S, Drouot N, Fritsch M, Delaunoy JP, Stoppa-Lyonnet D, Tranchant C, Koenig M
Neurogenetics 2010 Feb;11(1):1-12. Epub 2009 May 14 doi: 10.1007/s10048-009-0196-y. [Epub ahead of print] PMID: 19440741
Min KC, Kovall RA, Hendrickson WA
Proc Natl Acad Sci U S A 2003 Dec 9;100(25):14713-8. Epub 2003 Dec 1 doi: 10.1073/pnas.2136684100. [Epub ahead of print] PMID: 14657365Free PMC Article
Schuelke M, Finckh B, Sistermans EA, Ausems MG, Hübner C, von Moers A
Neurology 2000 Nov 28;55(10):1584-6. PMID: 11094124

Diagnosis

El Euch-Fayache G, Bouhlal Y, Amouri R, Feki M, Hentati F
Brain 2014 Feb;137(Pt 2):402-10. Epub 2013 Dec 25 doi: 10.1093/brain/awt339. [Epub ahead of print] PMID: 24369383
Jayadev S, Bird TD
Genet Med 2013 Sep;15(9):673-83. Epub 2013 Mar 28 doi: 10.1038/gim.2013.28. [Epub ahead of print] PMID: 23538602
Hentati F, El-Euch G, Bouhlal Y, Amouri R
Handb Clin Neurol 2012;103:295-305. doi: 10.1016/B978-0-444-51892-7.00018-8. PMID: 21827896
Di Donato I, Bianchi S, Federico A
Neurol Sci 2010 Aug;31(4):511-5. Epub 2010 May 13 doi: 10.1007/s10072-010-0261-1. [Epub ahead of print] PMID: 20464573
Koht J, Bjørnarå KA, Jørum E, Tallaksen CM
Acta Neurol Scand Suppl 2009;(189):42-5. doi: 10.1111/j.1600-0404.2009.01214.x. PMID: 19566498

Therapy

Di Donato I, Bianchi S, Federico A
Neurol Sci 2010 Aug;31(4):511-5. Epub 2010 May 13 doi: 10.1007/s10072-010-0261-1. [Epub ahead of print] PMID: 20464573
Koht J, Bjørnarå KA, Jørum E, Tallaksen CM
Acta Neurol Scand Suppl 2009;(189):42-5. doi: 10.1111/j.1600-0404.2009.01214.x. PMID: 19566498
Bellayou H, Dehbi H, Bourezgui M, Slassi I, Nadifi S
Pathol Biol (Paris) 2009 Jul;57(5):425-6. Epub 2008 Nov 26 doi: 10.1016/j.patbio.2008.09.014. [Epub ahead of print] PMID: 19038506
Roubertie A, Biolsi B, Rivier F, Humbertclaude V, Cheminal R, Echenne B
Brain Dev 2003 Sep;25(6):442-5. PMID: 12907280
Gabsi S, Gouider-Khouja N, Belal S, Fki M, Kefi M, Turki I, Ben Hamida M, Kayden H, Mebazaa R, Hentati F
Eur J Neurol 2001 Sep;8(5):477-81. PMID: 11554913

Prognosis

Bromley D, Anderson PC, Daggett V
Biochemistry 2013 Jun 18;52(24):4264-73. Epub 2013 Jun 10 doi: 10.1021/bi4001084. [Epub ahead of print] PMID: 23713716Free PMC Article
Anheim M, Fleury M, Monga B, Laugel V, Chaigne D, Rodier G, Ginglinger E, Boulay C, Courtois S, Drouot N, Fritsch M, Delaunoy JP, Stoppa-Lyonnet D, Tranchant C, Koenig M
Neurogenetics 2010 Feb;11(1):1-12. Epub 2009 May 14 doi: 10.1007/s10048-009-0196-y. [Epub ahead of print] PMID: 19440741
Palau F, Espinós C
Orphanet J Rare Dis 2006 Nov 17;1:47. doi: 10.1186/1750-1172-1-47. [Epub ahead of print] PMID: 17112370Free PMC Article
Mariotti C, Gellera C, Rimoldi M, Mineri R, Uziel G, Zorzi G, Pareyson D, Piccolo G, Gambi D, Piacentini S, Squitieri F, Capra R, Castellotti B, Di Donato S
Neurol Sci 2004 Jul;25(3):130-7. doi: 10.1007/s10072-004-0246-z. PMID: 15300460
Di Donato S, Gellera C, Mariotti C
Neurol Sci 2001 Jun;22(3):219-28. doi: 10.1007/s100720100001. PMID: 11731874

Clinical prediction guides

Bromley D, Anderson PC, Daggett V
Biochemistry 2013 Jun 18;52(24):4264-73. Epub 2013 Jun 10 doi: 10.1021/bi4001084. [Epub ahead of print] PMID: 23713716Free PMC Article
Zingg JM, Meydani M, Azzi A
Biofactors 2012 Jan-Feb;38(1):24-33. Epub 2012 Jan 27 doi: 10.1002/biof.198. [Epub ahead of print] PMID: 22281871
Anheim M, Fleury M, Monga B, Laugel V, Chaigne D, Rodier G, Ginglinger E, Boulay C, Courtois S, Drouot N, Fritsch M, Delaunoy JP, Stoppa-Lyonnet D, Tranchant C, Koenig M
Neurogenetics 2010 Feb;11(1):1-12. Epub 2009 May 14 doi: 10.1007/s10048-009-0196-y. [Epub ahead of print] PMID: 19440741
Qian J, Atkinson J, Manor D
Biochemistry 2006 Jul 11;45(27):8236-42. doi: 10.1021/bi060522c. PMID: 16819822
Gabsi S, Gouider-Khouja N, Belal S, Fki M, Kefi M, Turki I, Ben Hamida M, Kayden H, Mebazaa R, Hentati F
Eur J Neurol 2001 Sep;8(5):477-81. PMID: 11554913

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